Incidental Mutation 'R5609:Eif3k'
ID 437966
Institutional Source Beutler Lab
Gene Symbol Eif3k
Ensembl Gene ENSMUSG00000053565
Gene Name eukaryotic translation initiation factor 3, subunit K
Synonyms Eif3s12, 1200009C21Rik, eIF3K
MMRRC Submission 043158-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R5609 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 28670797-28681289 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28681133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 9 (A9S)
Ref Sequence ENSEMBL: ENSMUSP00000147214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066070] [ENSMUST00000085835] [ENSMUST00000207185] [ENSMUST00000207683] [ENSMUST00000208227] [ENSMUST00000208616] [ENSMUST00000208707]
AlphaFold Q9DBZ5
Predicted Effect probably benign
Transcript: ENSMUST00000066070
AA Change: A9S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000066038
Gene: ENSMUSG00000053565
AA Change: A9S

DomainStartEndE-ValueType
Pfam:CSN8_PSD8_EIF3K 61 200 1.2e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085835
SMART Domains Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337

DomainStartEndE-ValueType
S_TKc 17 274 3.58e-84 SMART
low complexity region 301 318 N/A INTRINSIC
low complexity region 373 383 N/A INTRINSIC
low complexity region 385 416 N/A INTRINSIC
low complexity region 426 446 N/A INTRINSIC
CNH 506 813 4.93e-106 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207185
Predicted Effect probably benign
Transcript: ENSMUST00000207683
AA Change: A9S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207762
Predicted Effect probably benign
Transcript: ENSMUST00000208227
Predicted Effect probably benign
Transcript: ENSMUST00000208616
AA Change: A9S

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000208707
AA Change: A9S

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,353,874 (GRCm39) I3732T probably benign Het
Ago1 C A 4: 126,354,830 (GRCm39) K127N possibly damaging Het
Akap8l T C 17: 32,557,374 (GRCm39) N79S probably damaging Het
Ano5 T C 7: 51,243,385 (GRCm39) L836P probably damaging Het
AY358078 A G 14: 52,042,065 (GRCm39) T147A unknown Het
Cabp4 T C 19: 4,189,251 (GRCm39) D102G probably benign Het
Cdc34 C T 10: 79,520,655 (GRCm39) R61C probably damaging Het
Chac1 A G 2: 119,181,887 (GRCm39) K2E unknown Het
Cltc C T 11: 86,621,093 (GRCm39) V305I probably damaging Het
Cog7 T C 7: 121,524,683 (GRCm39) T704A probably benign Het
Cux1 A G 5: 136,421,174 (GRCm39) V184A probably damaging Het
Daglb A T 5: 143,464,274 (GRCm39) T262S probably benign Het
Dglucy A G 12: 100,753,905 (GRCm39) I12V probably null Het
Dnah7a A G 1: 53,621,753 (GRCm39) V1124A probably benign Het
Eef2 C CN 10: 81,014,603 (GRCm39) probably null Het
Elapor1 T A 3: 108,378,731 (GRCm39) I408F probably damaging Het
Gli3 A T 13: 15,723,038 (GRCm39) M60L possibly damaging Het
Hk1 C T 10: 62,178,330 (GRCm39) E4K probably benign Het
Kmt2b C A 7: 30,276,570 (GRCm39) V1701L probably damaging Het
Lrp1b T C 2: 41,231,807 (GRCm39) H1107R probably damaging Het
Lypd10 A T 7: 24,413,711 (GRCm39) R242S possibly damaging Het
Ncor1 A G 11: 62,249,679 (GRCm39) probably null Het
Or5h23 T A 16: 58,906,439 (GRCm39) M136L possibly damaging Het
Or6c70 T G 10: 129,710,607 (GRCm39) R6S probably benign Het
Plekhg4 G A 8: 106,106,134 (GRCm39) probably null Het
Pmfbp1 G T 8: 110,251,739 (GRCm39) E327D probably damaging Het
Slc22a17 G A 14: 55,146,427 (GRCm39) P63L probably damaging Het
Slc37a1 G A 17: 31,556,982 (GRCm39) V383M possibly damaging Het
Slc9a9 T A 9: 94,691,990 (GRCm39) Y182N probably damaging Het
Slx4ip A G 2: 136,842,162 (GRCm39) D29G probably damaging Het
St3gal5 T C 6: 72,130,446 (GRCm39) V319A possibly damaging Het
Tbc1d10c C T 19: 4,239,881 (GRCm39) M76I possibly damaging Het
Thrb C A 14: 18,033,526 (GRCm38) H416N probably benign Het
Timp2 T A 11: 118,210,987 (GRCm39) D60V probably damaging Het
Ubxn6 C T 17: 56,376,745 (GRCm39) E216K probably benign Het
Unc79 T C 12: 103,094,527 (GRCm39) M1977T probably benign Het
Uri1 G A 7: 37,662,954 (GRCm39) R347* probably null Het
Vmn1r73 G A 7: 11,490,591 (GRCm39) W136* probably null Het
Vmn2r124 T C 17: 18,294,102 (GRCm39) Y730H probably benign Het
Wnk4 C T 11: 101,166,462 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,468,679 (GRCm39) N2971D probably damaging Het
Other mutations in Eif3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Eif3k APN 7 28,674,101 (GRCm39) splice site probably benign
IGL03049:Eif3k APN 7 28,670,858 (GRCm39) missense possibly damaging 0.72
R1833:Eif3k UTSW 7 28,670,852 (GRCm39) missense probably benign 0.03
R4698:Eif3k UTSW 7 28,671,969 (GRCm39) missense possibly damaging 0.62
R6866:Eif3k UTSW 7 28,676,651 (GRCm39) missense possibly damaging 0.85
R8128:Eif3k UTSW 7 28,679,742 (GRCm39) critical splice donor site probably benign
R8887:Eif3k UTSW 7 28,679,901 (GRCm39) nonsense probably null
R9097:Eif3k UTSW 7 28,671,660 (GRCm39) makesense probably null
R9193:Eif3k UTSW 7 28,673,624 (GRCm39) missense probably damaging 1.00
Z1088:Eif3k UTSW 7 28,674,024 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- CACTATGTAGGATGGTCCACAAGG -3'
(R):5'- TGAAAGCGCCTTTCCCTTTG -3'

Sequencing Primer
(F):5'- CTAAAAGACACCGGGAGTCTGTG -3'
(R):5'- CCCTTTGCCTTCCTTGTAGG -3'
Posted On 2016-10-26